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Erythropoietic protoporphyria: a case report and literature reviewC-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadMolecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesisBiology of Heme in Mammalian Erythroid Cells and Related DisordersThe human flavoproteomeMitochondrial ClpX Activates a Key Enzyme for Heme Biosynthesis and Erythropoiesis.Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: a literature reviewTMEM14C is required for erythroid mitochondrial heme metabolismN-alkylprotoporphyrin formation and hepatic porphyria in dogs after administration of a new antiepileptic drug candidate: mechanism and species specificityCpG sites associated with cigarette smoking: analysis of epigenome-wide data from the Sister StudyIron and porphyrin trafficking in heme biogenesis.Liver iron content determination by magnetic resonance imaging.Diverse clinical compounds alter the quaternary structure and inhibit the activity of an essential enzymePsychiatric signs and symptoms in treatable inborn errors of metabolism.Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.Liver disease and erythropoietic protoporphyria: a concise review.Vitamin D deficiency in patients with erythropoietic protoporphyria.Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).Control of intracellular heme levels: heme transporters and heme oxygenasesHepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.Cellular and mitochondrial iron homeostasis in vertebratesPorphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.Psychosocial aspects of predictive genetic testing for acute intermittent porphyria in norwegian minorsHemin and a metabolic derivative coprohemin modulate the TLR4 pathway differently through different molecular targets66-year-old woman with painless vesicular lesions.Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.Diagnosis of common dermopathies in dialysis patients: a review and update.Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature.Role of genetic testing in the management of patients with inherited porphyria and their families.Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.Update review of the acute porphyrias.Acute exacerbation of hereditary coproporphyria mimics early surgical infection following intrathecal pump implantation for chronic abdominal pain: A case report.Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.Dynamics of absorption, metabolism, and excretion of 5-aminolevulinic acid in human intestinal Caco-2 cells.Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia.A baby with photosensitivity and red teeth.Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse.Best practice guidelines on clinical management of acute attacks of porphyria and their complications.Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.Assessing nutritional status of acute intermittent porphyria patients.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Modern diagnosis and management of the porphyrias.
@ast
Modern diagnosis and management of the porphyrias.
@en
type
label
Modern diagnosis and management of the porphyrias.
@ast
Modern diagnosis and management of the porphyrias.
@en
prefLabel
Modern diagnosis and management of the porphyrias.
@ast
Modern diagnosis and management of the porphyrias.
@en
P2860
P1476
Modern diagnosis and management of the porphyrias.
@en
P2093
Shigeru Sassa
P2860
P304
P356
10.1111/J.1365-2141.2006.06289.X
P407
P577
2006-09-04T00:00:00Z